Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
0.100 Biomarker phenotype HPO
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
0.100 Biomarker phenotype HPO
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.100 Biomarker phenotype HPO
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14
0.100 Biomarker phenotype HPO
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
0.100 Biomarker phenotype HPO
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.100 Biomarker phenotype HPO
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
0.100 Biomarker phenotype HPO
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.100 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014